Variant report

Variant	rs10226880
Chromosome Location	chr7:137262848-137262849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137256136..137257936-chr7:137262366..137264782,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10246490	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs10249241	0.88[ASN][1000 genomes]
rs10260210	0.81[CHB][hapmap]
rs10270097	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10280229	1.00[CEU][hapmap]
rs10480524	0.93[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1097033	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs13437885	0.88[ASN][1000 genomes]
rs1358445	0.87[CHB][hapmap]
rs1358446	0.87[CHB][hapmap]
rs1358447	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs1364367	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1525044	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1525045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1525046	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1525047	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1525049	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1614024	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1615692	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1627230	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1628676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1632142	0.85[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1646365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1646366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1646372	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1646375	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1646377	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1646378	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1646382	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1646387	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs1646388	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1646389	1.00[CHB][hapmap]
rs1646390	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs1646393	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1646397	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs1646398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1646399	0.93[ASN][1000 genomes]
rs1646400	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1646401	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1646402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17169262	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs17169273	1.00[CEU][hapmap]
rs17169278	1.00[CEU][hapmap]
rs1723085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1723086	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1723087	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1723089	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1723091	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1723092	0.93[ASN][1000 genomes]
rs1723093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1723095	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1723096	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1723098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1723099	0.93[ASN][1000 genomes]
rs1723100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1723106	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs1723107	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1723109	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1723119	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1723120	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1728442	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1728443	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1728450	1.00[CEU][hapmap]
rs1728452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1728453	1.00[CEU][hapmap]
rs1728476	0.87[CHB][hapmap]
rs1728491	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1728494	0.93[ASN][1000 genomes]
rs1728495	0.90[JPT][hapmap]
rs1728496	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs1728497	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1728498	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2293547	0.87[CHB][hapmap]
rs2293548	0.91[CHB][hapmap]
rs2293549	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2691999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2692002	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs2692006	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs2692007	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs2692008	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs28513274	0.88[AFR][1000 genomes]
rs28656777	0.89[EUR][1000 genomes]
rs3857867	0.92[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs6467709	0.85[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap]
rs6467710	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs6957428	0.87[ASN][1000 genomes]
rs6964340	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs6964837	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs7456122	0.89[YRI][hapmap]
rs7781490	0.81[JPT][hapmap]
rs7784757	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs834054	1.00[CHB][hapmap]
rs834055	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs834057	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs834058	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs834059	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap]
rs834060	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs834061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs834062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs834063	0.82[CEU][hapmap]
rs834066	0.91[ASN][1000 genomes]
rs834067	0.85[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap]
rs834068	0.87[ASN][1000 genomes]
rs834070	0.93[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs834071	0.93[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs834073	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs834074	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs834075	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs834076	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs834081	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs834082	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs834083	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs834084	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs834086	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs834087	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs834088	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs834089	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs834090	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs834091	0.88[ASN][1000 genomes]
rs834092	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs834093	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs834094	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs834431	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes]
rs834432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes]
rs834433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes]
rs834436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs834443	1.00[CEU][hapmap]
rs834444	1.00[CEU][hapmap]
rs863082	1.00[CEU][hapmap]
rs864434	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs865021	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs883222	0.81[CHB][hapmap]
rs967592	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137215400-137275400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:137224400-137274800	Weak transcription	HSMMtube	muscle
3	chr7:137237200-137264000	Weak transcription	NH-A	brain
4	chr7:137237400-137277800	Weak transcription	Aorta	Aorta
5	chr7:137249800-137265000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:137251000-137264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:137255000-137274800	Weak transcription	Brain Anterior Caudate	brain
8	chr7:137257400-137264400	Weak transcription	NHDF-Ad	bronchial
9	chr7:137257600-137264400	Weak transcription	Fetal Heart	heart
10	chr7:137259600-137264200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:137260400-137274200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:137261000-137264400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:137261800-137264800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:137262000-137263600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:137262000-137264400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:137262000-137265200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:137262200-137263400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:137262400-137263200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:137262400-137263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:137262400-137263400	Strong transcription	Osteobl	bone
21	chr7:137262400-137264000	Weak transcription	HMEC	breast
22	chr7:137262400-137264400	Weak transcription	NHLF	lung
23	chr7:137262600-137263200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:137262600-137263600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:137262600-137263600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr7:137262800-137263200	Weak transcription	Fetal Stomach	stomach
27	chr7:137262800-137263600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:137262800-137263800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:137262800-137264400	Weak transcription	HSMM	muscle

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